Variant report

Variant	nsv947199
Chromosome Location	chr1:158842004-158850046
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:158849632-158849667	Fibrobl	skin:	n/a	n/a
2	E2F4	chr1:158844423-158844675	MCF10A-Er-Src	breast:	n/a	n/a
3	MAFF	chr1:158841671-158842036	HepG2	liver:	n/a	chr1:158841970-158841988 chr1:158841969-158841983
4	MAFK	chr1:158841834-158842015	K562	blood:	n/a	chr1:158841974-158841988 chr1:158841966-158841986 chr1:158841975-158841986 chr1:158841976-158841987 chr1:158841971-158841986 chr1:158841971-158841987 chr1:158841976-158841987
5	MAFK	chr1:158841818-158842093	IMR90	lung:	n/a	chr1:158841974-158841988 chr1:158841966-158841986 chr1:158841975-158841986 chr1:158841976-158841987 chr1:158841971-158841986 chr1:158841971-158841987 chr1:158841976-158841987
6	MAFK	chr1:158841599-158842097	HepG2	liver:	n/a	chr1:158841974-158841988 chr1:158841966-158841986 chr1:158841975-158841986 chr1:158841976-158841987 chr1:158841675-158841689 chr1:158841676-158841687 chr1:158841677-158841688 chr1:158841971-158841986 chr1:158841626-158841636 chr1:158841676-158841692 chr1:158841677-158841688 chr1:158841971-158841987 chr1:158841976-158841987 chr1:158841676-158841687
7	MAFK	chr1:158841611-158842096	HepG2	liver:	n/a	chr1:158841974-158841988 chr1:158841966-158841986 chr1:158841975-158841986 chr1:158841976-158841987 chr1:158841675-158841689 chr1:158841676-158841687 chr1:158841677-158841688 chr1:158841971-158841986 chr1:158841626-158841636 chr1:158841676-158841692 chr1:158841677-158841688 chr1:158841971-158841987 chr1:158841976-158841987 chr1:158841676-158841687
8	MXI1	chr1:158848251-158848364	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:158842732..158844535-chr1:158852060..158853613,2	MCF-7	breast:
2	chr1:158843130..158845633-chr1:158845939..158848183,3	K562	blood:
3	chr1:158843130..158845633-chr1:158846139..158848183,2	K562	blood:
4	chr1:158843130..158845633-chr1:158846139..158848183,2	K562	blood:
5	chr1:158843130..158845633-chr1:158845939..158848183,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MNDA-1	chr1:158849834-158849979	NONHSAT006992
2	lnc-MNDA-1	chr1:158848536-158848798	NONHSAT006992

Variant related genes	Relation type
ENSG00000229849	TF binding region

Extended variants
information (count: 72 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75007406	chr1:158844439-158844440	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs142693173	chr1:158844463-158844464	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs181446596	chr1:158844476-158844477	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs527474171	chr1:158844496-158844497	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs144460268	chr1:158844524-158844525	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs2852711	chr1:158844525-158844526	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs2852712	chr1:158844559-158844560	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs575519455	chr1:158844576-158844577	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs543045629	chr1:158844600-158844601	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs75643940	chr1:158844616-158844617	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs186682876	chr1:158844818-158844819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs370446479	chr1:158844827-158844828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs367811916	chr1:158844832-158844833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs190603937	chr1:158844854-158844855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs2852713	chr1:158844879-158844880	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs556488667	chr1:158844899-158844900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs550569602	chr1:158844904-158844905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs562824036	chr1:158844930-158844931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs74125311	chr1:158844933-158844934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs547792367	chr1:158844936-158844937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs566220695	chr1:158844943-158844944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs201338821	chr1:158845006-158845007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs183217245	chr1:158845020-158845021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs141798246	chr1:158845031-158845032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs6667119	chr1:158845044-158845045	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs78947158	chr1:158845094-158845095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs539242375	chr1:158845102-158845103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs537091835	chr1:158845119-158845120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs186417659	chr1:158845135-158845136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs2518517	chr1:158845157-158845158	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs367971539	chr1:158845208-158845209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs150553002	chr1:158845252-158845253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs2852652	chr1:158845264-158845265	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs139923447	chr1:158845266-158845267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs540767092	chr1:158845282-158845283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs77068442	chr1:158845316-158845317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs190916713	chr1:158845354-158845355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs182370841	chr1:158845379-158845380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs2097591	chr1:158845386-158845387	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs576836317	chr1:158845450-158845451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs2820167	chr1:158845495-158845496	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs376556234	chr1:158845516-158845517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs144239786	chr1:158845530-158845531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs2011615	chr1:158845539-158845540	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs527304374	chr1:158845563-158845564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs146575302	chr1:158845567-158845568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs72702969	chr1:158845571-158845572	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs538813788	chr1:158845574-158845575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs551192850	chr1:158845586-158845587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs117777228	chr1:158845632-158845633	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:110)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Non-small cell lung cancer	21385341	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Systemic lupus erythematosus	19220326	CNVD
Systemic lupus erythematosus	19287148	CNVD
Glomerulonephritis	19341492	CNVD
Systemic lupus erythematosus	18559452	CNVD
Systemic autoimmune disease	17597778	CNVD
Glomerulonephritis	17008540	CNVD
Glomerulonephritis	16482158	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
Breast cancer	21045282	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Follicular lymphoma	18703704	CNVD
Pancreatic cancer	17952125	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Diabetes mellitus	21357537	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:158844800-158845600	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr1:158844800-158845600	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr1:158845000-158845800	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr1:158845000-158845800	Enhancers	iPS-18 Cell Line	embryonic stem cell

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